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Biodiversity continues to decline in the face of increasing anthropogenic pressures such as habitat destruction, exploitation, pollution and introduction of alien species. Existing global databases of species’ threat status or population time series are dominated by charismatic species. The collation of datasets with broad taxonomic and biogeographic extents, and that support computation of a range of biodiversity indicators, is necessary to enable better understanding of historical declines and to project – and avert – future declines. We describe and assess a new database of more than 1.6 million samples from 78 countries representing over 28,000 species, collated from existing spatial comparisons of local-scale biodiversity exposed to different intensities and types of anthropogenic pressures, from terrestrial sites around the world. The database contains measurements taken in 208 (of 814) ecoregions, 13 (of 14) biomes, 25 (of 35) biodiversity hotspots and 16 (of 17) megadiverse countries. The database contains more than 1% of the total number of all species described, and more than 1% of the described species within many taxonomic groups – including flowering plants, gymnosperms, birds, mammals, reptiles, amphibians, beetles, lepidopterans and hymenopterans. The dataset, which is still being added to, is therefore already considerably larger and more representative than those used by previous quantitative models of biodiversity trends and responses. The database is being assembled as part of the PREDICTS project (Projecting Responses of Ecological Diversity In Changing Terrestrial Systems – www.predicts.org.uk). We make site-level summary data available alongside this article. The full database will be publicly available in 2015.
Rezension zu Erika Greber, Konrad Ehlich u. Jan-Dirk Müller: Materialität und Medialität von Schrift, Bielefeld (Aisthesis) 2002 (= Schrift und Bild in Bewegung; Bd. 1). 204 Seiten.
Der Band zeigt, dass sich anhand der Titelformel 'Schrift und Bild in Bewegung' ein sehr heterogenes Spektrum aktueller (literalitäts-)theoretischer Fragestellungen und Forschungen diskutieren lässt, und umfasst schrift- und kulturhistorische Rekonstruktionen der Schrift von den Zählsymbolen über die Hieroglyphenschrift bis zum Unicode, systematische Untersuchungen zur Medienkonkurrenz und zu den Auswirkungen der Materialität und Technizität des Mediums auf seine Form und schließlich exemplarische Analysen alter und neuer Formen mobiler Seh-Texte, die im Insistieren auf der Medialität und Materialität neue Intensitäten der Schrift entdecken.
Autism spectrum disorder (ASD) is a highly heritable disorder of complex and heterogeneous aetiology. It is primarily characterized by altered cognitive ability including impaired language and communication skills and fundamental deficits in social reciprocity. Despite some notable successes in neuropsychiatric genetics, overall, the high heritability of ASD (~90%) remains poorly explained by common genetic risk variants. However, recent studies suggest that rare genomic variation, in particular copy number variation, may account for a significant proportion of the genetic basis of ASD. We present a large scale analysis to identify candidate genes which may contain low-frequency recessive variation contributing to ASD while taking into account the potential contribution of population differences to the genetic heterogeneity of ASD. Our strategy, homozygous haplotype (HH) mapping, aims to detect homozygous segments of identical haplotype structure that are shared at a higher frequency amongst ASD patients compared to parental controls. The analysis was performed on 1,402 Autism Genome Project trios genotyped for 1 million single nucleotide polymorphisms (SNPs). We identified 25 known and 1,218 novel ASD candidate genes in the discovery analysis including CADM2, ABHD14A, CHRFAM7A, GRIK2, GRM3, EPHA3, FGF10, KCND2, PDZK1, IMMP2L and FOXP2. Furthermore, 10 of the previously reported ASD genes and 300 of the novel candidates identified in the discovery analysis were replicated in an independent sample of 1,182 trios. Our results demonstrate that regions of HH are significantly enriched for previously reported ASD candidate genes and the observed association is independent of gene size (odds ratio 2.10). Our findings highlight the applicability of HH mapping in complex disorders such as ASD and offer an alternative approach to the analysis of genome-wide association data.
While it is apparent that rare variation can play an important role in the genetic architecture of autism spectrum disorders (ASDs), the contribution of common variation to the risk of developing ASD is less clear. To produce a more comprehensive picture, we report Stage 2 of the Autism Genome Project genome-wide association study, adding 1301 ASD families and bringing the total to 2705 families analysed (Stages 1 and 2). In addition to evaluating the association of individual single nucleotide polymorphisms (SNPs), we also sought evidence that common variants, en masse, might affect the risk. Despite genotyping over a million SNPs covering the genome, no single SNP shows significant association with ASD or selected phenotypes at a genome-wide level. The SNP that achieves the smallest P-value from secondary analyses is rs1718101. It falls in CNTNAP2, a gene previously implicated in susceptibility for ASD. This SNP also shows modest association with age of word/phrase acquisition in ASD subjects, of interest because features of language development are also associated with other variation in CNTNAP2. In contrast, allele scores derived from the transmission of common alleles to Stage 1 cases significantly predict case status in the independent Stage 2 sample. Despite being significant, the variance explained by these allele scores was small (Vm< 1%). Based on results from individual SNPs and their en masse effect on risk, as inferred from the allele score results, it is reasonable to conclude that common variants affect the risk for ASD but their individual effects are modest.
Although autism spectrum disorders (ASDs) have a substantial genetic basis, most of the known genetic risk has been traced to rare variants, principally copy number variants (CNVs). To identify common risk variation, the Autism Genome Project (AGP) Consortium genotyped 1558 rigorously defined ASD families for 1 million single-nucleotide polymorphisms (SNPs) and analyzed these SNP genotypes for association with ASD. In one of four primary association analyses, the association signal for marker rs4141463, located within MACROD2, crossed the genome-wide association significance threshold of P < 5 × 10−8. When a smaller replication sample was analyzed, the risk allele at rs4141463 was again over-transmitted; yet, consistent with the winner's curse, its effect size in the replication sample was much smaller; and, for the combined samples, the association signal barely fell below the P < 5 × 10−8 threshold. Exploratory analyses of phenotypic subtypes yielded no significant associations after correction for multiple testing. They did, however, yield strong signals within several genes, KIAA0564, PLD5, POU6F2, ST8SIA2 and TAF1C.
Andreas Bülhoff und Annette Gilbert geben einen Einblick in die von ihnen im Rahmen des DFG-Projekts "Artefakte der Avantgarden 1885–2015" begründete "Library of Artistic Print on Demand". Dabei zeigen sie anhand ausgewählter Artefakte, wie PoD-Publikationen als programmatisch schlecht gemachte Bücher die Restriktionen des Literaturbetriebs und der PoD-Plattformen gleichermaßen unterlaufen. Zugleich ist der Status dieser Artefakte äußerst prekär: Der Eingang dieser Publikationen in die Bestände der Bibliotheken kann darum auch als ein kulturpolitisches Anliegen begriffen werden.
Die vielgestaltige Kunst der europäischen Avantgarden hat besondere Dinge, Objekte oder Artefakte hervorgebracht, die hier ins Zentrum einer interdisziplinär erarbeiteten Sammlung historischer Fallstudien gerückt werden. Die Beiträge untersuchen aus Sicht der digitalen Gegenwart sprechende Gegenstände wie Hüte, Puppen, Bücher in print on demand, Fototexte, Audiokassetten und diverse Archivalien, zudem einzigartige kulturhistorische und künstlerische Produktionen, etwa das 'Michelin-Männchen', Hannah Höchs 'Hampelfrau' und Schreibautomaten. Eine neu akzentuierte Literaturgeschichte der Objekte zeichnet sich hier ab, zugleich eine andere Geschichte der Avantgarden von ihren Rändern her.